• Gene id: 118491

Gene Summary

• Gene Symbol: CFAP70   Gene   UCSC   Ensembl
• Aliases: SPGF41, TTC18
• Gene name: cilia and flagella associated protein 70
• Alternate names: cilia- and flagella-associated protein 70, TPR repeat protein 18, tetratricopeptide repeat domain 18, tetratricopeptide repeat protein 18, tetratricopeptide repeat-containing protein (LOC118491),
• Gene location: 10q22.2 (73361063: 73253757)     Exons: 31     NC_000010.11
• OMIM: 618661

Protein Summary

• Protein general information: Q5T0N1  
  • Name: Cilia and flagella associated protein 70 (Tetratricopeptide repeat protein 18) (TPR repeat protein 18)
  • Length: 1121  
  • Mass: 125721
  • Tissue specificity: Expressed in testis. {ECO
• Sequence:

  MEQVPSAGRLVQITVTEGYDLKGFKGDTPVTFIRAEFNQVVLGDSAKITVSPEGSAKYNFTSSFEFNPEGGITSD
  DLAHKPVFLTVTEVLPKEKKQKEEKTLILGQAVVDLLPLLEGQSSFQTTVPLHPVQGSPLETPRSSAKQCSLEVK
  VLVAEPLLTTAQISGGNLLKVTLEAAYSVPESFIPTGPGQNYMVGLQVPSLGEKDYPILFKNGTLKLGGEREPVP
  RPKKWPIANILAPGANNIPDAFIVGGPYEEEEGELNHPEDSEFRNQAECIKKRIIWDLESRCYLDPSAVVSFQKR
  IADCRLWPVEITRVPLVTIPKGKAGKTEKTDEEAQLSFHGVAYVNMVPLLYPGVKRIRGAFHVYPYLDSVVHEKT
  KCLLSLFRDIGHHLIHNNKIGGINSLLSKQAVSKNLKEDKPVKEKDIDGRPRPGDVQAPSIKSQSSDTPLEGEPP
  LSHNPEGQQYVEAGTYIVLEIQLDKALVPKRMPEELARRVKEMIPPRPPLTRRTGGAQKAMSDYHIQIKNISRAI
  LDEYYRMFGKQVAKLESDMDSETLEEQKCQLSYELNCSGKYFAFKEQLKHAVVKIVRDKYLKTTSFESQEELQTF
  ISELYVFLVDQMHVALNQTMPDDVQGTVATIYTSSEQLQLFAFEAEVNENFEMAAAYYKERLVREPQNLDHWLDY
  GAFCLLTEDNIKAQECFQKALSLNQSHIHSLLLCGVLAVLLENYEQAEIFFEDATCLEPTNVVAWTLLGLYYEIQ
  NNDIRMEMAFHEASKQLQARMLQAQVTKQKSTGVEDTEERGKRESSLGPWGITNGSATAIKVEAPAGPGAALSIL
  DKFLEESSKLQSDSQEPILTTQTWDPSISQKPSNTFIKEIPTKKEASKCQDSSALLHPGLHYGVSQTTTIFMETI
  HFLMKVKAVQYVHRVLAHELLCPQGGPSCEYYLVLAQTHILKKNFAKAEEYLQQAAQMDYLNPNVWGLKGHLYFL
  SGNHSEAKACYERTISFVVDASEMHFIFLRLGLIYLEEKEYEKAKKTYMQACKRSPSCLTWLGLGIACYRLEELT
  EAEDALSEANALNNYNAEVWAYLALVCLKVGRQLEAEQAYKYMIKLKLKDEALLAEIHTLQETVGFGNPSF

• Structural information:
  • Interpro: IPR013026  IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000310829
• Other Databases: GeneCards:  CFAP70  Malacards:  CFAP70

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036064	ciliary basal body	IDA	cellular component
GO:0036126	sperm flagellum	IDA	cellular component
GO:0036157	outer dynein arm	IDA	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0003341	cilium movement	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005930	axoneme	IEA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0003341	cilium movement	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0036126	sperm flagellum	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Spermatogenic failure	KEGG:H01282
Spermatogenic failure	KEGG:H01282
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Multiple morphological abnormalities of the sperm flagella (MMAF)	MIK: 31621862
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31621862	Multiple morphological abnormalities of the sperm flagella (MMAF)	c.1723-1G>T, missense variant in exon 3 (p.Phe60Ile)		167 MMAF-affected subjects	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq